Release Date: 2024-04-04

Screening Tests Performed in the Newborn Period in Our Country for Congenital Endocrine and Metabolic Diseases: Definition and Their Importance

Ilknur Surucu Kara (Author), Zerrin Orbak (Author)

Release Date: 2024-04-04

Genetic, metabolic and endocrinological diseases are the most important causes of malformations and deaths in the first months of life. The incidence of hereditary endocrinological and metabolic diseases is higher in our country and in countries like ours where consanguineous marriages are common. Early or presymptomatic detection of treatable rare diseases and early initiation of [...]

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    Work TypeBook Chapter
    Published inNewborn and Childhood Screening Programmes
    First Page1
    Last Page28
    DOIhttps://doi.org/10.69860/nobel.9786053358961.1
    LanguageENG
    Page Count28
    Copyright HolderNobel Tıp Kitabevleri
    Licensehttps://nobelpub.com/publish-with-us/copyright-and-licensing

    Genetic, metabolic and endocrinological diseases are the most important causes of malformations and deaths in the first months of life. The incidence of hereditary endocrinological and metabolic diseases is higher in our country and in countries like ours where consanguineous marriages are common. Early or presymptomatic detection of treatable rare diseases and early initiation of treatment significantly reduce morbidity and mortality and improve quality of life and prognosis. In many countries, metabolic and endocrinological diseases such as phenylketonuria, biotinidase enzyme deficiency, galactosemia, homocystinuria, maple syrup urine disease, congenital adrenal hyperplasia and congenital hypothyroidism are screened. In addition, sickle cell anaemia, glucose-6-phosphate dehydrogenase deficiency, severe combined immunodeficiencies, immunological diseases, cardiovascular diseases, cystic fibrosis and congenital hearing loss are also screened. Newborn screening tests are not diagnostic. Additional tests are required to confirm or exclude a suspected diagnosis. Screening programmes are expanded according to the development of countries and the prevalence of diseases. In some countries, some incurable diseases are included in the extended newborn screening programme for early diagnosis and planning of subsequent pregnancies. Screening is performed by different methods such as calorimetric method, MS/MS (tandem mass spectrometry) and genetic screening. In our country, phenylketonuria, congenital hypothyroidism, biotinidase deficiency, cystic fibrosis, congenital adrenal hyperplasia and spinal muscular atrophy are screened in all newborns within the scope of the national newborn screening programme.

    Zerrin Orbak (Author)
    Professor, Ataturk University
    https://orcid.org/0000-0002-1847-9844
    3After completing Atatürk University Faculty of Medicine in 1989, she started his specialty training at Atatürk University Faculty of Medicine, Department of Child Health and Diseases in the same year. She was appointed as an assistant professor to the same faculty in 1994. She completed his subspecialty training in the Department of Endocrinology and Metabolism at Ege University, Department of Pediatrics, between 1996 and 1998. She became an associate professor in 1998. In 1999, She took part in the establishment of the Pediatric Endocrinology and Metabolism Department within the Department of Pediatrics of Atatürk University Faculty of Medicine. Between August and December 2003, she served as an observing professor at the Ohio State University Children’s Hospital Department of Pediatric Endocrinology. She became a professor in March 2004. Between 2006 and 2008, she served as vice dean, purchasing commission chairman and pharmaceutical research ethics committee chairman. She has been the Head of the Department of Pediatric Endocrinology and Metabolism since 1999 and the Head of the Department of Pediatrics since 2017, and the Deputy Chief Physician since 2023. She is a member of ESPE (European Society of Pediatric Endocrinology), Endocrine Society and ISPAD (International Society for Pediatric and Adolescent Diabetes), Pediatric Endocrine and Diabetes Association, and Turkish National Pediatric Association. She worked as a manager and researcher in national multi-center projects, BAP and TÜBİTAK supported projects. She has over 150 international scientific studies, and presented at numerous national and international conferences. She has also supervised many postgraguate theses. She is currently the editor of the ""internal medicine"" section of ""The Eurasian Journal of Medicine"". The journal is included in the SCI-Expanded database.

    Ilknur Surucu Kara (Author)
    MD, Gaziantep City Hospita
    https://orcid.org/0000-0001-7842-9278
    3Nutrition and paediatric metabolism specialist, paediatric health and diseases specialist, medical doctor İlknur Sürücü Kara has been working in her profession for twenty years. She has more than forty publications, more than fifty oral presentations and posters, as well as participation in scientific social activities and a moderator. Her academic education is as follows: 2020-2023 Ankara University, Faculty of Medicine Department of Paediatric Metabolism. 2014-2020 Erzincan Binali Yıldırım University, Faculty of Medicine, Department of Pediatrics - head of the department. 2006 - 2010 Atatürk University Faculty of Medicine Department of Pediatrics. 1996-2002 Ege University Faculty of Medicine. The unit she is currently working in: Department of Pediatric Metabolism and Nutrition, Gaziantep City Hospital, Gaziantep, Turkey.

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